Definition: Maple Syrup Urine Disorder is a rare inherited disorder. It is when the body is unable to process certain protein building blocks properly and it's characterized by deficiency of enzymes.
Symptoms: The name comes from the "sweet" smell of the urine, of the infected patient. The disease infects infants. Some symptoms of Maple Syrup Urine Disorder are poor feeding, irritability, vomiting, lack of energy and developmental delay. It can lead to seizures, comas and brain damage.
Frequency: This disease infects about one in 185,000 people. It is inherited by an autosomal recessive pattern, each parent carries one copy of the mutated gene.
Diagnostics/Treatment: This disease can be diagnosed by a blood test. New borns can be tested at birth for it. It can be treated by restrictions from leucine, isoleucine, and valine. If person has surgery then the disease is exacerbated. Even if disease is being treated, persons with it still remain at risk for serious illness and injuries that come from having the disease. The illness can occur by injury, fasting, or psychological stress.
Prognosis: If the disease is not treated death will occur in just the first months of life.
Definition: Maple Syrup Urine Disorder is a rare inherited disorder. It is when the body is unable to process certain protein building blocks properly and it's characterized by deficiency of enzymes.
Symptoms: The name comes from the "sweet" smell of the urine, of the infected patient. The disease infects infants. Some symptoms of Maple Syrup Urine Disorder are poor feeding, irritability, vomiting, lack of energy and developmental delay. It can lead to seizures, comas and brain damage.
Frequency: This disease infects about one in 185,000 people. It is inherited by an autosomal recessive pattern, each parent carries one copy of the mutated gene.
Diagnostics/Treatment: This disease can be diagnosed by a blood test. New borns can be tested at birth for it. It can be treated by restrictions from leucine, isoleucine, and valine. If person has surgery then the disease is exacerbated. Even if disease is being treated, persons with it still remain at risk for serious illness and injuries that come from having the disease. The illness can occur by injury, fasting, or psychological stress.
Prognosis: If the disease is not treated death will occur in just the first months of life.
Scientific name: Branched chain ketoaciduria
Branched chain alpha-keto dehydrogenase deficiency
MSUD type 1A
BCKD deficiency
WORK CITED:
Genetic Home Reference. April 11, 2010. April 14, 2010. http://ghr.nlm.nih.gov/condition=maplesyrupurinedisease.
Haldeman, Chad. Maple Syrup Urine Disorder. April, 2009. Children's hospital of Philadelphia. April 14, 2010. http://www.nlm.nih.gov/medlineplus/ency/article/000373.htm
Maple Syrup Urine Disease. August 2007. National Organization of Rare Disorders. April 14, 2010. http://children.webmd.com/maple-syrup-urine-disease-11168.
Discussion Questions:
1. What are the symptoms of this disease?
2. How is this disease inherited?
3. What are the statistics of this disease?
Candice Mcghee
pd.2/3 4/16/10